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Samenvatting Functioneren bij neurologische aandoeningen

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onderdeel van het vak

Institution
Universiteit Hasselt (UHasselt)
Course
Functioneren bij neurologische aandoeningen









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Written for

Institution
Universiteit Hasselt (UHasselt)
Study
Revalidatiewetenschappen En Kinesitherapie
Course
Functioneren bij neurologische aandoeningen
All documents for this subject (16)

Document information

Uploaded on
January 22, 2021
Number of pages
4
Written in
2020/2021
Type
Summary

Subjects

  • huntington

Content preview

Ziekte van huntington
Pathophysiologie
Definitie

Is een neurodegeneratieve aandoening  veroorzaakt autosomaal dominant
genetische overerving op CAG trinucleotide huntington gen




Etiologie en epidemiologie
Epidemiologie

Prevalentie

 5-13.7/100.000

Eerste symptomen

 30-40 jaar

Clinical respresentation… aandoeningen

 Cognitieve
 Motorische
 Psychiatrische

Etiologie

+39 CAG herhalingen  zeker ziekte huntington

36-39 herhalingen  niet 100% zeker

Hoe langer het gen  hoe vroeger de uiting

, Pathogenesis

Cellulair niveau

 Verandering axonale transport
 Verandering
o Transcriptie
o Translatie
 Verandering synaptische functie

Moleculair niveau

 NIET INZOEMEN !!

Macroscopisch brein level

 Medium spiny neuronen striatum  extra gevoelig mutatie huntington gen
 bifasisch patroon
o Verlies medium spiny neuronen  indirecte baan = hyperkinetsich
fenotype
o Verlies directe baan = hypokinetisch fenotype
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Samenvattingen revalidatiewetenschappen en kinesitherapie aan de UHasselt

Ik zorg voor gestructureerde samenvattingen die ik op regelmatige basis upload. Vaak zijn er ook verwerkte Engelse artikels in mijn samenvattingen te vinden. Dit bespaart je veel tijd en moeite.

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